Journal article
Somatic mutations in cerebral cortical malformations
SS Jamuar, ATN Lam, M Kircher, AM D'Gama, J Wang, BJ Barry, X Zhang, RS Hill, JN Partlow, A Rozzo, S Servattalab, BK Mehta, M Topcu, D Amrom, E Andermann, B Dan, E Parrini, R Guerrini, IE Scheffer, SF Berkovic Show all
New England Journal of Medicine | MASSACHUSETTS MEDICAL SOC | Published : 2014
Abstract
BACKGROUND: Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated. METHODS: Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200x) to leukocytederived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). We validate..
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Awarded by National Institute of Neurological Disorders and Stroke
Funding Acknowledgements
Funded by the National Institute of Neurological Disorders and Stroke and others.